PMID- 36636555
OWN - NLM
STAT- MEDLINE
DCOM- 20230116
LR  - 20230130
IS  - 1469-5073 (Electronic)
IS  - 0016-6723 (Print)
IS  - 0016-6723 (Linking)
VI  - 2022
DP  - 2022
TI  - Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in 
      Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies.
PG  - 6791439
LID - 10.1155/2022/6791439 [doi]
LID - 6791439
AB  - OBJECTIVE: The current study aimed to compare the characteristics of chromosome 
      abnormalities detected by conventional G-banding karyotyping, chromosome 
      microarray analysis (CMA), or fluorescence in situ hybridization (FISH)/CNVplex 
      analysis and further explore the application value of combined karyotype analysis 
      and CMA in prenatal diagnosis with a larger sample size. METHODS: From March 2019 
      to March 2021, 3710 amniocentesis samples were retrospectively collected from 
      women who accepted prenatal diagnosis at 16 to 22 + 6 weeks of pregnancy. The 
      pregnant women underwent karyotype analysis and CMA. In the case of fetal 
      chromosomal mosaicism, FISH or CNVplex analysis was utilized for validation. 
      RESULTS: In total, 3710 G-banding karyotype results and CMA results from invasive 
      prenatal diagnosis were collected. Of these, 201 (5.41%) fetuses with an abnormal 
      karyotype were observed. The CMA analysis showed that the abnormality rate was 
      9.14% (340/3710). The detection rate of CMA combined with karyotype analysis was 
      0.35% higher than that of CMA alone and 4.08% higher than that of karyotyping 
      alone. Additionally, 12 cases had abnormal karyotype analysis, despite normal CMA 
      results. To further detect the chromosome mosaicism, we used FISH analysis to 
      correct the karyotype results of case 1. Correspondingly, a total of 157 cases 
      showed abnormal CMA results but normal karyotype analysis. We also found 
      chromosomal mosaicism in 4 cases using CMA. Moreover, CNVplex and CMA 
      demonstrated that representative case 15 was mosaicism for trisomy 2. 
      CONCLUSIONS: Conventional G-banding karyotyping and CMA have their own advantages 
      and limitations. A combination of karyotype analysis and CMA can increase the 
      detection rate of chromosome abnormalities and make up for the limitation of 
      signal detection.
CI  - Copyright (c) 2022 Jin Wang et al.
FAU - Wang, Jin
AU  - Wang J
AUID- ORCID: 0000-0003-4961-6618
AD  - Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial 
      Maternity and Child Health Care Hospital, Chengdu 610003, China.
FAU - Wang, Danni
AU  - Wang D
AUID- ORCID: 0000-0001-8097-0119
AD  - Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial 
      Maternity and Child Health Care Hospital, Chengdu 610003, China.
FAU - Yin, Yan
AU  - Yin Y
AUID- ORCID: 0000-0001-9134-3559
AD  - Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial 
      Maternity and Child Health Care Hospital, Chengdu 610003, China.
FAU - Deng, Yi
AU  - Deng Y
AUID- ORCID: 0000-0001-9829-207X
AD  - Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial 
      Maternity and Child Health Care Hospital, Chengdu 610003, China.
FAU - Ye, Mengling
AU  - Ye M
AUID- ORCID: 0000-0001-7101-7641
AD  - Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial 
      Maternity and Child Health Care Hospital, Chengdu 610003, China.
FAU - Wei, Ping
AU  - Wei P
AUID- ORCID: 0000-0001-9797-9830
AD  - Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial 
      Maternity and Child Health Care Hospital, Chengdu 610003, China.
FAU - Zhang, Zhuo
AU  - Zhang Z
AUID- ORCID: 0000-0002-2095-8246
AD  - Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial 
      Maternity and Child Health Care Hospital, Chengdu 610003, China.
FAU - Chen, Chun
AU  - Chen C
AUID- ORCID: 0000-0001-7736-6498
AD  - Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial 
      Maternity and Child Health Care Hospital, Chengdu 610003, China.
FAU - Qin, Shengfang
AU  - Qin S
AUID- ORCID: 0000-0001-9391-890X
AD  - Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial 
      Maternity and Child Health Care Hospital, Chengdu 610003, China.
FAU - Wang, Xueyan
AU  - Wang X
AUID- ORCID: 0000-0003-1277-9165
AD  - Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial 
      Maternity and Child Health Care Hospital, Chengdu 610003, China.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20221229
PL  - England
TA  - Genet Res (Camb)
JT  - Genetics research
JID - 101550220
SB  - IM
MH  - Female
MH  - Pregnancy
MH  - Humans
MH  - *Chromosome Disorders/diagnosis/genetics
MH  - Cohort Studies
MH  - Retrospective Studies
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Chromosome Aberrations
MH  - Prenatal Diagnosis/methods
MH  - Abnormal Karyotype
MH  - Mosaicism
MH  - Microarray Analysis/methods
PMC - PMC9815932
COIS- The authors declare that they have no conflicts of interest.
EDAT- 2023/01/14 06:00
MHDA- 2023/01/17 06:00
PMCR- 2022/12/29
CRDT- 2023/01/13 02:05
PHST- 2022/06/16 00:00 [received]
PHST- 2022/11/07 00:00 [revised]
PHST- 2022/11/18 00:00 [accepted]
PHST- 2023/01/13 02:05 [entrez]
PHST- 2023/01/14 06:00 [pubmed]
PHST- 2023/01/17 06:00 [medline]
PHST- 2022/12/29 00:00 [pmc-release]
AID - 10.1155/2022/6791439 [doi]
PST - epublish
SO  - Genet Res (Camb). 2022 Dec 29;2022:6791439. doi: 10.1155/2022/6791439. 
      eCollection 2022.